Bach I, Brunner H G, Beighton P, Ruvalcaba R H, Reardon W, Pembrey M E, van der Velde-Visser S D, Bruns G A, Cremers C W, Cremers F P
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Am J Hum Genet. 1992 Jul;51(1):38-44.
Employing various probes from the proximal part of the Xq21 region, which is known to harbor the DFN3 gene, we have investigated 13 unrelated male probands with X-linked deafness, to detect possible deletions. For two of these patients, microdeletions could be detected by using probe pHU16 (DXS26). One of these deletions also encompasses locus DXS169, indicating that it extends farther toward the centromere. The presence of normal hybridization patterns in the DNA of 25 unrelated control males suggests that these deletions are the primary cause of progressive mixed deafness in these patients. If so, their molecular characterization may pave the way for the identification and isolation of the corresponding gene.
利用来自Xq21区域近端的各种探针（已知该区域含有DFN3基因），我们研究了13名患有X连锁性耳聋的无血缘关系男性先证者，以检测可能的缺失情况。对于其中两名患者，使用探针pHU16（DXS26）可检测到微缺失。其中一个缺失还包含DXS169位点，表明它向着丝粒方向延伸得更远。25名无血缘关系对照男性的DNA中存在正常杂交模式，这表明这些缺失是这些患者进行性混合性耳聋的主要原因。如果是这样，它们的分子特征可能为相应基因的鉴定和分离铺平道路。
